| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 686 | 2019 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 622 | 2017 |
| The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 349 | 2017 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature Cell Biology 17 (8), 1074-1087, 2015 | 252 | 2015 |
| Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans Z Li, PI Sergouniotis, M Michaelides, DS Mackay, GA Wright, S Devery, ... The American Journal of Human Genetics 85 (5), 711-719, 2009 | 213 | 2009 |
| Retinal structure and function in achromatopsia: Implications for gene therapy V Sundaram, C Wilde, J Aboshiha, J Cowing, C Han, CS Langlo, ... Ophthalmology, 2013 | 187 | 2013 |
| Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause Leber congenital amaurosis PI Sergouniotis, AE Davidson, DS Mackay, Z Li, X Yang, V Plagnol, ... The American Journal of Human Genetics 89 (1), 183-190, 2011 | 171 | 2011 |
| Molecular findings from 537 individuals with inherited retinal disease JM Ellingford, S Barton, S Bhaskar, J O'Sullivan, SG Williams, JA Lamb, ... Journal of medical genetics 53 (11), 761-767, 2016 | 162 | 2016 |
| Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease JM Ellingford, S Barton, S Bhaskar, SG Williams, PI Sergouniotis, ... Ophthalmology 123 (5), 1143-1150, 2016 | 149 | 2016 |
| Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ... The American Journal of Human Genetics 99 (6), 1305-1315, 2016 | 132 | 2016 |
| Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1 RH Henderson, DS Mackay, Z Li, P Moradi, PI Sergouniotis, ... British Journal of Ophthalmology 95 (6), 811-817, 2011 | 128 | 2011 |
| Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function K Fujinami, PI Sergouniotis, AE Davidson, G Wright, RK Chana, ... American Journal of Ophthalmology 156 (3), 487-501. e1, 2013 | 122 | 2013 |
| Retinal structure, function, and molecular pathologic features in gyrate atrophy PI Sergouniotis, AE Davidson, E Lenassi, SR Devery, AT Moore, ... Ophthalmology, 2011 | 115 | 2011 |
| RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy PI Sergouniotis, AE Davidson, DS Mackay, GA Wright, NH Waseem, ... Human Mutation, 2012 | 106* | 2012 |
| Novel mutations in MERTK associated with childhood onset rod-cone dystrophy DS Mackay, RH Henderson, PI Sergouniotis, Z Li, P Moradi, GE Holder, ... Molecular Vision 16, 369, 2010 | 104 | 2010 |
| Phenotypic variability in RDH5 retinopathy (fundus albipunctatus) PI Sergouniotis, EH Sohn, Z Li, VA McBain, GA Wright, AT Moore, ... Ophthalmology, 2011 | 101 | 2011 |
| Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy S Halford, G Liew, DS Mackay, PI Sergouniotis, R Holt, S Broadgate, ... Ophthalmology, 2014 | 100 | 2014 |
| Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism JA Poulter, M Al-Araimi, I Conte, MM van Genderen, E Sheridan, IM Carr, ... The American Journal of Human Genetics, 2013 | 91 | 2013 |
| Validation of copy number variation analysis for next-generation sequencing diagnostics JM Ellingford, C Campbell, S Barton, S Bhaskar, S Gupta, RL Taylor, ... European Journal of Human Genetics 25 (6), 719-724, 2017 | 90 | 2017 |
| Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy PI Sergouniotis, C Chakarova, C Murphy, M Becker, E Lenassi, G Arno, ... The American Journal of Human Genetics 94 (5), 760-769, 2014 | 88 | 2014 |
Andrew WebsterUCL Institute of Ophthalmology在 ucl.ac.uk 的电子邮件经过验证
